| 1 |
33767958 | Novel BEST1 mutation in autosomal recessive bestrophinopathy in Japanese siblings. | 2021 Jan-Mar |
5 |
| 2 |
34012682 | Autosomal Recessive Bestrophinopathy: Clinical and Genetic Characteristics of Twenty-Four Cases. | 2021 |
3 |
| 3 |
34015078 | Phenotypic and Genetic Spectrum of Autosomal Recessive Bestrophinopathy and Best Vitelliform Macular Dystrophy. | 2021 May 3 |
1 |
| 4 |
31519547 | Mutation spectrum of the bestrophin-1 gene in a large Chinese cohort with bestrophinopathy. | 2020 Jun |
1 |
| 5 |
32646389 | Pathogenic role of the vitreous in angle-closure glaucoma with autosomal recessive bestrophinopathy: a case report. | 2020 Jul 9 |
1 |
| 6 |
32882766 | Induced Pluripotent Stem Cell Modeling of Best Disease and Autosomal Recessive Bestrophinopathy. | 2020 Sep |
1 |
| 7 |
29540715 | Mutant Best1 Expression and Impaired Phagocytosis in an iPSC Model of Autosomal Recessive Bestrophinopathy. | 2018 Mar 14 |
1 |
| 8 |
26333019 | Biallelic Mutations in the BEST1 Gene: Additional Families with Autosomal Recessive Bestrophinopathy. | 2016 Jun |
2 |
| 9 |
26200502 | Autosomal Recessive Bestrophinopathy Is Not Associated With the Loss of Bestrophin-1 Anion Channel Function in a Patient With a Novel BEST1 Mutation. | 2015 Jul |
2 |
| 10 |
21412020 | Autosomal recessive bestrophinopathy: new observations on the retinal phenotype - clinical and molecular report of an Italian family. | 2011 |
1 |
| 11 |
21203346 | A synonymous codon variant in two patients with autosomal recessive bestrophinopathy alters in vitro splicing of BEST1. | 2010 Dec 31 |
1 |
| 12 |
18179881 | Biallelic mutation of BEST1 causes a distinct retinopathy in humans. | 2008 Jan |
1 |